"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1697318	NM_001042424.3(NSD2):c.1947_1948del (p.Glu650fs)	NSD2 (E650fs)	Deletion (frameshift variant)	Rauch-Steindl syndrome	GPathogenic
Select item 1285442	NM_001042424.3(NSD2):c.2675G>A (p.Arg892Lys)	NSD2 (R892K)	Single nucleotide variant (missense variant)	4p partial monosomy syndrome	GUncertain significance
Select item 638278	NM_001042424.3(NSD2):c.3295G>A (p.Glu1099Lys)	NSD2 (E1099K)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +14 more	GConflicting classifications of pathogenicity
Select item 2500313	NM_001042424.3(NSD2):c.3412C>G (p.Arg1138Gly)	NSD2 (R1138G)	Single nucleotide variant (missense variant)	Rauch-Steindl syndrome	GUncertain significance
Select item 2578449	NM_001042424.3(NSD2):c.3835del (p.Glu1279fs)	NSD2 (E1279fs)	Deletion (frameshift variant)	Rauch-Steindl syndrome	GLikely pathogenic
Select item 3359065	NM_001042424.3(NSD2):c.2518+2T>C	NSD2	Single nucleotide variant (splice donor variant)	Rauch-Steindl syndrome	GLikely pathogenic

ClinVar